Epidermolysis bullosa simplex, autosomal recessive due to exophilin 5 deficiency

Preferred Label : Epidermolysis bullosa simplex, autosomal recessive due to exophilin 5 deficiency;

ICD-11 definition : This autosomal recessive basal subtype of epidermolysis bullosa simplex (EBS-AR exophilin 5) is due to an absence of exophilin 5 in basal keratinocytes resulting from mutations in the EXOH5 gene. It is characterised by generalised blistering and crusting with mild mottled pigmentary changes.;

ICD-11 synonym : EBS - [epidermolysis bullosa simplex] autosomal recessive; EBS-AR - [epidermolysis bullosa simplex, autosomal recessive]; EBS autosomal recessive; EBS-AR exophilin 5; epidermolysis bullosa simplex, autosomal recessive;

ICD-11 acronym : EBS-AR;

Details

Origin ID

1267488538;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive generalized epidermolysis bullosa simplex [ORDO Disease]
- Epidermolysis bullosa simplex 1d, generalized, intermediate or severe, autosomal recessive [OMIM Phenotype]
- Epidermolysis bullosa simplex due to exophilin 5 deficiency [ORDO Disease]

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